A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615031



Internal ID7001920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130954555..130958193hg38UCSC Ensembl
Innerchr7:130954605..130958143hg38UCSC Ensembl
Outerchr7:130954488..130958260hg38UCSC Ensembl
chr7:130639314..130642952hg19UCSC Ensembl
Innerchr7:130639364..130642902hg19UCSC Ensembl
Outerchr7:130639247..130643019hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg383639
hg193639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12972109
SamplesNA20522
Known GenesLINC-PINT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615031
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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